Brouillard P - Search Results

1

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Alpaslan M, et al. Among authors: brouillard p. Hum Mol Genet. 2024 Apr 26:ddae060. doi: 10.1093/hmg/ddae060. Online ahead of print. Hum Mol Genet. 2024. PMID: 38676400

2

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M, Mestré-Godin S, Lay A, Giacalone G, Helaers R, Adham S, Kovacsik H, Guillemard S, Mercier E, Boon L, Revencu N, Brouillard P, Quere I, Vikkula M. Alpaslan M, et al. Among authors: brouillard p. J Med Genet. 2023 Nov 27;60(12):1161-1168. doi: 10.1136/jmg-2023-109171. J Med Genet. 2023. PMID: 37225411

3

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Brouillard P, et al. Am J Hum Genet. 2002 Apr;70(4):866-74. doi: 10.1086/339492. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845407 Free PMC article.

4

Genetic causes of vascular malformations.

Brouillard P, Vikkula M. Brouillard P, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. doi: 10.1093/hmg/ddm211. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17670762 Review.

5

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Fastré E, Lanteigne LE, Helaers R, Giacalone G, Revencu N, Dionyssiou D, Demiri E, Brouillard P, Vikkula M. Fastré E, et al. Among authors: brouillard p. Clin Genet. 2018 Jul;94(1):179-181. doi: 10.1111/cge.13204. Epub 2018 Mar 15. Clin Genet. 2018. PMID: 29542815 No abstract available.

6

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. Revencu N, et al. Among authors: brouillard p. J Med Genet. 2020 Jan;57(1):48-52. doi: 10.1136/jmedgenet-2019-106024. Epub 2019 Jul 12. J Med Genet. 2020. PMID: 31300548

7

Primary lymphoedema.

Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M. Brouillard P, et al. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7. Nat Rev Dis Primers. 2021. PMID: 34675250 Review.

8

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Smeland MF, Brouillard P, Prescott T, Boon LM, Hvingel B, Nordbakken CV, Nystad M, Holla ØL, Vikkula M. Smeland MF, et al. Among authors: brouillard p. J Med Genet. 2023 Jan;60(1):57-64. doi: 10.1136/jmedgenet-2021-108179. Epub 2021 Dec 7. J Med Genet. 2023. PMID: 34876502 Free PMC article.

9

Vascular malformations: localized defects in vascular morphogenesis.

Brouillard P, Vikkula M. Brouillard P, et al. Clin Genet. 2003 May;63(5):340-51. doi: 10.1034/j.1399-0004.2003.00092.x. Clin Genet. 2003. PMID: 12752563 Review.

10

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M. Boon LM, et al. Among authors: brouillard p. Am J Hum Genet. 1999 Jul;65(1):125-33. doi: 10.1086/302450. Am J Hum Genet. 1999. PMID: 10364524 Free PMC article.

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